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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-140525544-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=140525544&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 140525544,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000323570.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "NM_153702.4",
"protein_id": "NP_714913.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 293,
"cds_start": 116,
"cds_end": null,
"cds_length": 882,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "ENST00000323570.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "ENST00000323570.8",
"protein_id": "ENSP00000326342.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 293,
"cds_start": 116,
"cds_end": null,
"cds_length": 882,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "NM_153702.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "ENST00000502397.5",
"protein_id": "ENSP00000422582.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 166,
"cds_start": 116,
"cds_end": null,
"cds_length": 503,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "ENST00000511887.6",
"protein_id": "ENSP00000476419.1",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 59,
"cds_start": 116,
"cds_end": null,
"cds_length": 180,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "XM_005262885.4",
"protein_id": "XP_005262942.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 305,
"cds_start": 152,
"cds_end": null,
"cds_length": 918,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "XM_011531818.3",
"protein_id": "XP_011530120.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 294,
"cds_start": 152,
"cds_end": null,
"cds_length": 885,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "XM_011531819.3",
"protein_id": "XP_011530121.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 293,
"cds_start": 116,
"cds_end": null,
"cds_length": 882,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "XM_047449980.1",
"protein_id": "XP_047305936.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 282,
"cds_start": 116,
"cds_end": null,
"cds_length": 849,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "XM_047449981.1",
"protein_id": "XP_047305937.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 222,
"cds_start": 152,
"cds_end": null,
"cds_length": 669,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "n.1327T>C",
"hgvs_p": null,
"transcript": "ENST00000503541.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "n.575T>C",
"hgvs_p": null,
"transcript": "XR_001741193.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"hgvs_c": "c.*11T>C",
"hgvs_p": null,
"transcript": "ENST00000507667.1",
"protein_id": "ENSP00000427265.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": -4,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELMOD2",
"gene_hgnc_id": 28111,
"dbsnp": "rs150922490",
"frequency_reference_population": 6.844449e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84445e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03161683678627014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.685,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000323570.8",
"gene_symbol": "ELMOD2",
"hgnc_id": 28111,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}